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Molecular Genetics and Metabolism|February 7, 2016
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementationAyman W El-Hattab, Lisa T Emrick, Jean W Hsu, et al.
BMC Neurology|March 4, 2024
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case reportAmeya S Walimbe, Keren Machol, Stephen F Kralik, et al.
American Journal of Medical Genetics. Part A|December 21, 2018
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureMaureen Handoko, Lisa T Emrick, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytesLisa T Emrick, Lauren Murphy, Alireza A Shamshirsaz, et al.
Frontiers in Neuroscience|February 22, 2020
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Frontiers in Neuroscience|May 29, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Molecular Genetics and Metabolism|September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world dataIsabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
Molecular Genetics and Metabolism|March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
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